Associated Papers
Exploring the clinical, neuroimaging, and genetic spectrum of PLPBP deficiency: multicenter case series and systematic review.
Alsini H et al.
Molecular Genetics and Metabolism, 2026
Late-onset Vitamin B6-dependent epilepsy caused by compound heterozygous pathogenic PLPBP variants.
Nakamura S et al.
European Journal of Medical Genetics, 2025
The Conserved Family of the Pyridoxal Phosphate-Binding Protein (PLPBP) and Its Cyanobacterial Paradigm PipY.
Tremiño L et al.
Life (basel, Switzerland), 2022
Assessing clinical utility of preconception expanded carrier screening regarding residual risk for neurodevelopmental disorders.
Boonsawat P et al.
Npj Genomic Medicine, 2022
35906228 (PubMed )
Supplement: 41525_2022_316_MOESM2_ESM.pdf
Early-onset vitamin B6-dependent epilepsy due to pathogenic PLPBP variants in a premature infant: A case report and review of the literature.
Heath O et al.
Jimd Reports, 2021
Biochemical and Proteomic Studies of Human Pyridoxal 5'-Phosphate-Binding Protein (PLPBP).
Fux A et al.
Acs Chemical Biology, 2020
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
31345222 (PubMed )
Supplement: 12920_2019_543_MOESM8_ESM.xlsx › S6B
Disorders affecting vitamin B6 metabolism.
Wilson MP et al.
Journal of Inherited Metabolic Disease, 2019
Insight into vitamin B6 -dependent epilepsy due to PLPBP (previously PROSC) missense mutations.
Tremiño L et al.
Human Mutation, 2018
Confirmation of mutations in PROSC as a novel cause of vitamin B 6 -dependent epilepsy.
Plecko B et al.
Journal of Medical Genetics, 2017
Studies on cyanobacterial protein PipY shed light on structure, potential functions, and vitamin B6 -dependent epilepsy.
Tremiño L et al.
Febs Letters, 2017
Mutations in PROSC Disrupt Cellular Pyridoxal Phosphate Homeostasis and Cause Vitamin-B6-Dependent Epilepsy.
Darin N et al.
American Journal of Human Genetics, 2016
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